Canonical Allele Identifier: CA430266354

Linked Data

MyVariant Identifiers: chr2:g.179455735G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591008G>A , CM000664.2:g.178591008G>A GRCh38
NC_000002.11:g.179455735G>A , CM000664.1:g.179455735G>A GRCh37
NC_000002.10:g.179163981G>A NCBI36
NG_011618.3:g.244795C>T , LRG_391:g.244795C>T
NG_051363.1:g.73182G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.53013C>T (TTN) ENSP00000343764.6:p.Gly17671=
ENST00000342175.11:c.34098C>T (TTN) ENSP00000340554.6:p.Gly11366=
ENST00000359218.10:c.33897C>T (TTN) ENSP00000352154.5:p.Gly11299=
ENST00000342175.10:c.34098C>T (TTN) ENSP00000340554.6:p.Gly11366=
ENST00000342992.10:c.53013C>T (TTN) ENSP00000343764.6:p.Gly17671=
ENST00000359218.9:c.33897C>T (TTN) ENSP00000352154.5:p.Gly11299=
ENST00000460472.6:c.33522C>T (TTN) ENSP00000434586.1:p.Gly11174=
ENST00000589042.5:c.60717C>T (TTN) MANE Select ENSP00000467141.1:p.Gly20239=
ENST00000591111.5:c.55794C>T (TTN) ENSP00000465570.1:p.Gly18598=
ENST00000615779.4:c.55794C>T (TTN) ENSP00000483597.1:p.Gly18598=
NM_001256850.1:c.55794C>T (TTN) NP_001243779.1:p.Gly18598=
NM_001267550.2:c.60717C>T (TTN) MANE Select NP_001254479.2:p.Gly20239=
NM_003319.4:c.33522C>T (TTN) NP_003310.4:p.Gly11174=
NM_133378.4:c.53013C>T (TTN) NP_596869.4:p.Gly17671=
NM_133432.3:c.33897C>T (TTN) NP_597676.3:p.Gly11299=
NM_133437.4:c.34098C>T (TTN) NP_597681.4:p.Gly11366=
NR_038271.1:n.597-6588G>A (TTN-AS1)
NR_038272.1:n.3189-131G>A (TTN-AS1)
XM_011511729.1:c.59814C>T (TTN) XP_011510031.1:p.Gly19938=
XM_011511730.1:c.33708C>T (TTN) XP_011510032.1:p.Gly11236=
XM_011511731.1:c.33567C>T (TTN) XP_011510033.1:p.Gly11189=
XM_017004819.1:c.59610C>T (TTN) XP_016860308.1:p.Gly19870=
XM_017004820.1:c.55008C>T (TTN) XP_016860309.1:p.Gly18336=
XM_017004821.1:c.55005C>T (TTN) XP_016860310.1:p.Gly18335=
XM_017004822.1:c.52047C>T (TTN) XP_016860311.1:p.Gly17349=
XM_017004823.1:c.33663C>T (TTN) XP_016860312.1:p.Gly11221=
XM_024453094.1:c.55158C>T (TTN) XP_024308862.1:p.Gly18386=
XM_024453095.1:c.55155C>T (TTN) XP_024308863.1:p.Gly18385=
XM_024453096.1:c.54588C>T (TTN) XP_024308864.1:p.Gly18196=
XM_024453097.1:c.51930C>T (TTN) XP_024308865.1:p.Gly17310=
XM_024453098.1:c.51849C>T (TTN) XP_024308866.1:p.Gly17283=
XM_024453099.1:c.33612C>T (TTN) XP_024308867.1:p.Gly11204=
XM_024453100.1:c.23466C>T (TTN) XP_024308868.1:p.Gly7822=